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Gene: Mthfd1l MGI:1924836

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Gene Summary

Name:
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
Synonyms:
Fthfsdc1,  2410004L15Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Ambiguous
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Mthfd1ltm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Mthfd1ltm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Mthfd1ltm1a(EUCOMM)Wtsi
WT, Male, WTSI
Mthfd1ltm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Mthfd1ltm1a(EUCOMM)Wtsi
head, WT, Male, WTSI

View all 88 images

Mthfd1ltm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Mthfd1ltm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Mthfd1ltm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Mthfd1ltm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HET, Female, WTSI
Mthfd1ltm1a(EUCOMM)Wtsi
eye, cornea/lens fusion, corneal opacity, HET, Female, WTSI

Human diseases caused by Mthfd1l mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mthfd1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly OMIM:615041
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Macrocephaly, Aplasia/Hypopla... ORPHA:1931
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation, Microcephaly ORPHA:293
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Calvarial s... ORPHA:945
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Joubert Syndrome 15
Exencephaly OMIM:614464
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Verheij Syndrome
Branchial cyst, Short stature, Optic nerve hypoplasia, Microcephaly, Short neck, Cerebral atrophy... OMIM:615583
Craniosynostosis 6
Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Parietal foramina, Brach... OMIM:616602
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Gómez-López-Hernández Syndrome
Turricephaly, Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, Brachycephaly, Midface ... ORPHA:1532
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the ... OMIM:618736
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Short stature, Microcephaly ORPHA:1131
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... OMIM:611134
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida, Microcephaly ORPHA:64754
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation, Microcephaly ORPHA:435938
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Wildervanck Syndrome
Webbed neck, Meningocele, Low posterior hairline, Short neck ORPHA:3456
Humero-Radial Synostosis
Meningocele, Microcephaly ORPHA:3265
Schisis Association
Encephalocele, Anencephaly, Spina bifida, Microcephaly ORPHA:63862
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Spina bifida, Microcephaly, Abnormality of dental eruption, Brachycephaly, Intraut... ORPHA:1327
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysra... ORPHA:1908
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Cystic hygroma, Dandy-W... OMIM:603194
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Abnormal cortical gyration, Brachycephaly, Exencephaly, Macrogyria, ... ORPHA:2211
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Macrocephaly, Polymicrogyria, Agenesi... OMIM:600348
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Parietal foramina, Myelomeningocele, Encephalomalacia ORPHA:60015
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Plagiocephaly, Dolichoce... ORPHA:272
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly ORPHA:2898
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Low posterior hairline, Webbed neck ORPHA:2345
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Craniosynostosis, Microcephaly, Increased nuchal translucency, Plagiocephaly, Branchial anomaly, ... ORPHA:453499
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Short stature, Brachycephaly ORPHA:1514
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Microcephaly, Short neck, Meningocele, Prominent occiput, Macrocephaly, Umbilical ... ORPHA:2311
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Brachycephaly, Intrauterine growth... ORPHA:228390
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Hypoplasia of the corpus callosum, ... OMIM:218350
Diaphanospondylodysostosis
Myelomeningocele, Short neck ORPHA:66637
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Holoprosencephaly
Encephalocele, Frontal bossing, Flat occiput, Microcephaly, Short neck, Hydrocephalus, Spinal dys... ORPHA:2162
Alg3-Cdg
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti... ORPHA:79321
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Bresek Syndrome
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Plagiocephaly, Growth delay, Neonatal death,... ORPHA:85284
Cerebrocostomandibular Syndrome
Cerebral calcification, Short stature, Spina bifida, Microcephaly, Myelomeningocele, Meningocele,... ORPHA:1393
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Fountain Syndrome
Craniofacial hyperostosis, Short stature, Spina bifida, Macrocephaly, Spina bifida occulta, Midfa... ORPHA:3219
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Triploidy
Short neck, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holoprosenceph... ORPHA:3376
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Limitation of neck motion, Neural tube defect, ... ORPHA:268810
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum ORPHA:99742
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Abnormal cerebral morphology OMIM:113650
Hemimegalencephaly
Pachygyria, Cranial asymmetry, Hemimegalencephaly, Macrocephaly, Hyperintensity of cerebral white... ORPHA:99802
Bor Syndrome
Branchial cyst ORPHA:107
Neu-Laxova Syndrome 2
Spina bifida, Microcephaly, Short neck, Lissencephaly, Cerebellar hypoplasia, Intrauterine growth... OMIM:616038
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature, Biparietal narrowing ORPHA:2031
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Spina bifida, Myelomeningocele, Hydrocephalus, Thin calvarium, Spina ... ORPHA:2437
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hy... ORPHA:63259
Chromosome 17P13.1 Deletion Syndrome
Turricephaly, Diffuse cerebral atrophy, Spina bifida, Microcephaly, Short neck, Hydrocephalus, Br... OMIM:613776
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... OMIM:614424
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Microcephaly, Increased nuch... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Microcephaly, Increased nuch... ORPHA:352665
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Meningocele, Dandy-Walker malformation ORPHA:2481
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Flat occiput, Cerebral calcification, Severe short st... ORPHA:2780
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Brachycephaly, Hypoplasia of the olfactory bulb, Agenesis of corpus c... ORPHA:1827
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Frontal bossing, Microcephaly, Hydrocephalus, Webbed neck, Low posterior hairl... ORPHA:261337
Holoprosencephaly-Craniosynostosis Syndrome
Short stature, Craniosynostosis, Microcephaly, Brachycephaly, Plagiocephaly, Holoprosencephaly ORPHA:2163
Frontonasal Dysplasia 2
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Craniosynostosis, Mic... OMIM:613451
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Short stature, Microcephaly, Growth delay, Intrauterine growth retardation ORPHA:261330
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Frontal bossing, Brachycephaly, Midface retrusion ORPHA:861
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Microcephaly, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Cerebral atrophy, G... OMIM:614886
Neu-Laxova Syndrome
Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortical gyration, Micro... ORPHA:2671
Mosaic Trisomy 9
Spina bifida, Microcephaly, Short neck, Prominent occiput, Biparietal narrowing, Webbed neck, Int... ORPHA:99776
Hallermann-Streiff Syndrome
Natal tooth, Frontal bossing, Spina bifida, Microcephaly, Proportionate short stature, Scaphoceph... OMIM:234100
Curry-Jones Syndrome
Unicoronal synostosis, Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital mening... OMIM:601707
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Short neck, Meningocele, Low posterior hairline, Dolichocephaly, Umbil... ORPHA:2789
Trisomy 18
Short stature, Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum... ORPHA:3380
Lateral Meningocele Syndrome
Short stature, Short neck, Hydrocephalus, Meningocele, Dolichocephaly, Platybasia, Umbilical hern... OMIM:130720
Oligomeganephronia
Branchial cyst ORPHA:2260
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Microcephaly, Low posterior hairline, Plagiocephaly, Webbed neck, Spina bifida occ... OMIM:619227
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Holoprosencephaly 7
Frontal bossing, Flat occiput, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial age... OMIM:610828
Lathosterolosis
Cerebral calcification, Microcephaly, Meningocele, Biparietal narrowing, Intrauterine growth reta... ORPHA:46059
Trisomy 20P
Frontal bossing, Spina bifida, Short neck, Brachycephaly, Low posterior hairline, Plagiocephaly, ... ORPHA:261318
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Frontal bossing, Cerebellar vermis hypoplasia, Redundant neck skin, Abse... ORPHA:397715
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Proboscis, ... OMIM:605627
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Dolichocephaly, Intrauterine growth retardation, Midf... OMIM:620186
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, S... ORPHA:508488
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Short neck, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem... OMIM:616546
Phocomelia, Schinzel Type
Short neck, Disproportionate short stature, Meningocele, Intrauterine growth retardation, Calvari... ORPHA:2879
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Microcephaly, Short neck, Postnatal growth retardation, Low poster... OMIM:113620
Basal Cell Nevus Syndrome 1
Frontal bossing, Spina bifida, Hydrocephalus, Calcification of falx cerebri, Macrocephaly, Pariet... OMIM:109400
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Torticollis, Spina bifida, Partial agenesis of the corpus callosum, Plagiocephal... OMIM:619480
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Microcephaly, Meningocele ORPHA:991
Jacobsen Syndrome
Frontal bossing, Short stature, Spina bifida, Short neck, Cerebral atrophy, Webbed neck, Growth d... ORPHA:2308
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Cranial asymmetry, Optic nerve hypoplasia, Macrocephaly ORPHA:137634
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Neu-Laxova Syndrome 1
Broad neck, Spina bifida, Short neck, Stillbirth, Lissencephaly, Short umbilical cord, Small plac... OMIM:256520
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Witteveen-Kolk Syndrome
Branchial fistula, Frontal bossing, Short stature, Microcephaly, Dysplastic corpus callosum, Cort... OMIM:613406
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Postnatal growth retardation, Partial a... OMIM:304050
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Fibular Hemimelia
Craniosynostosis, Spina bifida ORPHA:93323
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Knobloch Syndrome 1
Occipital encephalocele, Absent septum pellucidum, Microcephaly, Polymicrogyria, Cerebral atrophy... OMIM:267750
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Macrocephaly OMIM:162200
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Short stature, Porencephalic cyst, Occipital meningocele, Polymicro... OMIM:277170
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Optic nerve hypoplasia, Spina bifida, Microcephaly, Short neck, Hypoplasia of the ... ORPHA:508498
Campomelic Dysplasia
Relative macrocephaly, Frontal bossing, Spina bifida, Hydrocephalus, Spinal dysraphism, Dispropor... OMIM:114290
22Q11.2 Deletion Syndrome
Turricephaly, Short stature, Spina bifida, Microcephaly, Short neck, Hydrocephalus, Meningocele, ... ORPHA:567
Fanconi Anemia
Frontal bossing, Short stature, Spina bifida, Microcephaly, Hydrocephalus, Growth delay, Dolichoc... ORPHA:84
Semilobar Holoprosencephaly
Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep... ORPHA:93924
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Short stature, Spina bifida, Brachycephaly, Cerebellar hypoplasia, ... OMIM:274000
Focal Dermal Hypoplasia
Umbilical hernia, Spina bifida ORPHA:2092
Koolen-De Vries Syndrome Due To A Point Mutation
Craniosynostosis, Spina bifida, Microcephaly, Postnatal growth retardation, Hydrocephalus, Hypopl... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Craniosynostosis, Spina bifida, Microcephaly, Postnatal growth retardation, Hydrocephalus, Hypopl... ORPHA:363958
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Agenesis of corpus callosum, Hydrocephalus OMIM:164210
Arthrogryposis, Distal, Type 4
Torticollis, Cranial asymmetry, Low posterior hairline OMIM:609128
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Short stature, Cranial asymmetry, Hemimegalencephaly OMIM:163200
Arima Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brai... OMIM:243910
Rubinstein-Taybi Syndrome 1
Frontal bossing, Short stature, Spina bifida, Microcephaly, Parietal foramina, Postnatal growth r... OMIM:180849
Otopalatodigital Syndrome, Type Ii
Frontal bossing, Short stature, Spina bifida, Short neck, Postnatal growth retardation, Hydroceph... OMIM:304120
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent urachus, Intrauterine... OMIM:192350
Marfan Syndrome
Meningocele, Dolichocephaly ORPHA:558
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Microcephaly ORPHA:322
Wiedemann-Rautenstrauch Syndrome
Relative macrocephaly, Natal tooth, Frontal bossing, Short stature, Hydrocephalus, Cranial asymme... ORPHA:3455
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Disproportionate short stature, Decreased calvarial ossification, Occipital meningoce... OMIM:276820

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mthfd1l

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mthfd1l.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deletion of neural tube defect-associated gene Mthfd1l causes reduced cranial mesenchyme density. Birth defects research (September 2019) Mthfd1ltm1b(EUCOMM)Wtsi PMC6939463
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mthfd1ltm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mthfd1ltm1a(EUCOMM)Wtsi PMC6459510
Deletion of the neural tube defect-associated gene Mthfd1l disrupts one-carbon and central energy metabolism in mouse embryos. The Journal of biological chemistry (February 2018) Mthfd1ltm1b(EUCOMM)Wtsi 29483189
Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. Proceedings of the National Academy of Sciences of the United States of America (December 2012) Mthfd1ltm1a(EUCOMM)Wtsi Mthfd1ltm1b(EUCOMM)Wtsi PMC3545794
Agouti C57BL/6N embryonic stem cells for mouse genetic resources. Nature methods (June 2009) Mthfd1ltm1a(EUCOMM)Wtsi PMC3555078

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mthfd1ltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mthfd1ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mthfd1ltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mthfd1ltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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